Variant Results

or

Results for "TCF3"

Variant Events: 22

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

TCF3

2-1090-003

chr19:
1648623-1648623

T

C

intronic

De novo

-

Trost2022 G

TCF3

3-0018-000

chr19:
1609766-1609766

G

A

UTR3

De novo

-

Trost2022 G
Yuen2017 G

TCF3

1-0695-004

chr19:
1636915-1636915

T

TGAA

intronic

De novo

-

Trost2022 G

TCF3

AU3517301

chr19:
1636155-1636155

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF3

REACH000242

chr19:
1645978-1645978

C

T

intronic

De novo

-

Trost2022 G

TCF3

4-0064-004

chr19:
1634359-1634359

C

T

intronic

De novo

-

Trost2022 G

TCF3

SP0084858

chr19:
1623943-1623943

G

A

intronic

De novo

-

Fu2022 E
Trost2022 G
Zhou2022 GE

TCF3

5-0023-003

chr19:
1635960-1635960

G

A

intronic

De novo

-

Trost2022 G

TCF3

1-0951-003

chr19:
1612598-1612598

A

G

intronic

De novo

-

Trost2022 G

TCF3

7-0365-004

chr19:
1615808-1615808

G

A

exonic

De novo

nonsynonymous SNV

NM_001136139
NM_003200

c.C1463T
c.C1463T

p.A488V
p.A488V

9.932

-

Trost2022 G

TCF3

12261.p1

chr19:
1619130-1619130

C

T

exonic

De novo

nonsynonymous SNV

NM_001136139
NM_003200

c.G1430A
c.G1430A

p.R477Q
p.R477Q

9.796

2.0E-4

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

TCF3

1-0507-003

chr19:
1623435-1623435

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

TCF3

09C97625

Complex Event; expand row to view variants

De novo

nonsynonymous SNV, frameshift insertion

NM_001136139
NM_003200
NM_001136139
NM_003200

c.1382dupA
c.1382dupA
c.C1383A
c.C1383A

p.N461fs
p.N461fs
p.N461K
p.N461K

14.78

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Neale2012 E
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Willsey2013 E
Zhou2022 GE

TCF3

1-0372-003

chr19:
1655340-1655340

T

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

TCF3

SP0130992

chr19:
1622125-1622125

C

CG

exonic

frameshift insertion

NM_001136139
NM_003200

c.749dupC
c.749dupC

p.P250fs
p.P250fs

-

Zhou2022 GE

TCF3

7-0058-003

chr19:
1727580-1727580

G

A

intergenic

De novo

-

Yuen2017 G

TCF3

AU074503

chr19:
1642313-1642313

A

C

intronic

De novo

-

Yuen2017 G

TCF3

SP0005392

chr19:
1627342-1627342

G

A

intronic

De novo

-

Fu2022 E

TCF3

SP0139139

chr19:
1619075-1619075

C

G

intronic

De novo

-

Fu2022 E
Trost2022 G

TCF3

SP0119719

chr19:
1646452-1646452

A

T

intronic

De novo

-

Fu2022 E

TCF3

SP0017597

chr19:
1632023-1632023

G

C

intronic

De novo

-

Fu2022 E

TCF3

SP0150010

chr19:
1612320-1612320

G

A

exonic

De novo

nonsynonymous SNV

NM_001136139

c.C1699T

p.R567W

21.4

4.169E-5

Fu2022 E
Zhou2022 GE

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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